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dc.contributor.advisorBuchari, Frank Bietra
dc.contributor.advisorTarigan, Utama Abdi
dc.contributor.authorFebrianto, Budi Yulhasfi
dc.date.accessioned2019-10-15T04:49:38Z
dc.date.available2019-10-15T04:49:38Z
dc.date.issued2017
dc.identifier.urihttp://repositori.usu.ac.id/handle/123456789/19594
dc.description62 Halamanen_US
dc.description.abstractBibir sumbing merupakan kelainan kongenital paling sering kedua di Indonesia setelah Sindrom Down dengan prevalensi pada anak usia 24-59 bulan Etiologi bibir sumbing non sindromik dengan atau tanpa celah langit-langit belum didefinisikan.Beberapa penelitian telah menyelidiki keterlibatan faktor genetik dan lingkungan Beberapa gen yang terlibat dalam metabolisme folat baru-baru ini diperiksa untuk menemukan faktor genetik pada etiologi bibir sumbing. Protein Reduced Folate Carrier 1 (RFC1) tidak terlibat langsung dalam metabolisme asam folat namun berperan penting dalam transport intraselular metabolit aktif 5-methyltetrahydrofolate (MTHF) dan mempertahankan konsentrasi folat intraselular.Penelitian ini bertujuan untuk mengidentifikasi polimorfisme pada Reduced Folate Carrier 1 (RFC1) pada pasien bibir sumbing non sindromik dengan atau tanpa celah langit-langit di Sumatera Utara. Sebanyak 46 pasien bibir sumbing tanpa sumbing langit-langit berpartisipasi dalam penelitian deskriptif ini. DNA subjek diambil dari leukosit perifer pasien yang diikuti dengan prosedur genotip pada gen RFC1 A80G dengan menggunakan Polymerase Chain Reaction - Restriction Fragment Length Polymorphism (PCR-RFLP). Distribusi genotipe kelompok subjek mengikuti Hardy-Weinberg Equilibrium.Frekuensi genotipe mutan (AG + GG) dari kelompok subjek adalah 63% (29/46).Penelitian ini menegaskan hipotesis bahwa varian mutan RFC1 A80G memiliki proporsi yang lebih besar pada pasien bibir sumbing non sindromik dengan atau tanpa celah langit-langit di Sumatera Utara.en_US
dc.description.abstractCleft lip is the second most frequent congenital anomalies in Indonesia after Down Syndrome with the prevalence among children aged 24-59 monthsThe etiology of non syndromic cleft lip with or without cleft palate has not yet been defined. Some studies have investigated the involvement of genetic and environmental factors. Some genes involved in the folate metabolism have been recently examined in order to discover the genetic factors in the cleft lip etiology. Reduced Folate Carrier 1 (RFC1) protein is not directly involved in the folic acid metabolism but plays a significant role in the intracellular transport of metabolically active 5-methyltetrahydrofolate (MTHF) and maintains the intracellular concentrations of folate. This research intends to identify polymorphism in the Reduced Folate Carrier 1 (RFC1) in the patients of non syndromic cleft lip with or without cleft palate in Sumatera Utara.A number of 46 patients of cleft lip without cleft palate participated in this descriptive study. Subjects' DNAs were extracted from the patients' peripheral leukocytes followed by genotyping procedure on RFC1 A80G gene using Polymerase Chain Reaction – Restriction Fragment Length Polymorphism (PCR-RFLP).Genotype distributions of the subject groups followed Hardy-Weinberg Equilibrium. The mutant genotype frequency (AG+GG) of the subject groups was 63% (29/46).This research confirms the hypothesis that RFC1 A80G mutant variant holds a greater proportion in the patients of non syndromic cleft lip with or without cleft palate in Sumatera Utaraen_US
dc.language.isoiden_US
dc.publisherUniversitas Sumatera Utaraen_US
dc.subjectPolimorfismeen_US
dc.subjectReduced Folate Carrier (RFC)en_US
dc.titleIdentifikasi Polimorfisme Gen Reduced Folate Carrier 1 (RFC) A80G pada Pasien Sumbing Bibir dengan Atau Tanpa Celah Langitan Non Sindrom di Sumatera Utaraen_US
dc.typeTesis Magisteren_US
dc.identifier.nimnipnik117041046


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